Canonical Allele Identifier: CA362183886

Gene: GABRG2

Linked Data

• MyVariant Identifiers: chr5:g.161580290A>C (hg19) ; chr5:g.162153284A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.162153284A>C , CM000667.2:g.162153284A>C	GRCh38
NC_000005.9:g.161580290A>C , CM000667.1:g.161580290A>C	GRCh37
NC_000005.8:g.161512868A>C	NCBI36
NG_009290.1:g.90643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356592.8:c.1345A>C
ENST00000361925.9:c.1440A>C	ENSP00000354651.5:p.Lys480Asn
ENST00000523372.2:c.1403A>C
ENST00000638253.1:n.598A>C
ENST00000638552.1:c.1035A>C	ENSP00000491763.1:p.Lys345Asn
ENST00000638660.1:c.1059A>C	ENSP00000492869.1:p.Lys353Asn
ENST00000638772.1:c.*3941A>C	ENSP00000491557.1:n.*3941A>C
ENST00000638877.1:c.1221A>C
ENST00000639046.1:c.711A>C	ENSP00000492659.1:p.Lys237Asn
ENST00000639111.2:c.1320A>C	ENSP00000492125.2:p.Lys440Asn
ENST00000639213.2:c.1344A>C MANE Select	ENSP00000491909.2:p.Lys448Asn
ENST00000639278.1:c.2007A>C	ENSP00000491958.1:n.2007A>C
ENST00000639384.1:c.*1525A>C	ENSP00000491240.1:n.*1525A>C
ENST00000639424.1:c.*544A>C	ENSP00000491245.1:n.*544A>C
ENST00000639683.1:c.1278A>C	ENSP00000492581.1:p.Lys426Asn
ENST00000639975.1:c.1254A>C	ENSP00000492096.1:p.Lys418Asn
ENST00000640500.1:n.618A>C
ENST00000640739.1:n.6291A>C
ENST00000640910.1:c.782A>C
ENST00000640985.1:c.1257A>C	ENSP00000492293.1:p.Lys419Asn
ENST00000641017.1:c.1413A>C	ENSP00000493461.1:p.Lys471Asn
ENST00000356592.7:c.1344A>C	ENSP00000349000.3:p.Lys448Asn
ENST00000361925.8:c.1320A>C	ENSP00000354651.4:p.Lys440Asn
ENST00000414552.6:c.1464A>C	ENSP00000410732.2:p.Lys488Asn
ENST00000522990.5:c.*922A>C	ENSP00000430732.1:n.*922A>C
ENST00000523372.1:c.1441A>C	ENSP00000430124.1:n.1441A>C
NM_000816.3:c.1320A>C	NP_000807.2:p.Lys440Asn
NM_198903.2:c.1464A>C	NP_944493.2:p.Lys488Asn
NM_198904.2:c.1344A>C	NP_944494.1:p.Lys448Asn
NM_001375339.1:c.1335A>C	NP_001362268.1:p.Lys445Asn
NM_001375340.1:c.*178A>C	NP_001362269.1:n.*178A>C
NM_001375341.1:c.1341A>C	NP_001362270.1:p.Lys447Asn
NM_001375342.1:c.1317A>C	NP_001362271.1:p.Lys439Asn
NM_001375343.1:c.1440A>C	NP_001362272.1:p.Lys480Asn
NM_001375344.1:c.1383A>C	NP_001362273.1:p.Lys461Asn
NM_001375345.1:c.1254A>C	NP_001362274.1:p.Lys418Asn
NM_001375346.1:c.1278A>C	NP_001362275.1:p.Lys426Asn
NM_001375347.1:c.1257A>C	NP_001362276.1:p.Lys419Asn
NM_001375348.1:c.900A>C	NP_001362277.1:p.Lys300Asn
NM_001375349.1:c.1035A>C	NP_001362278.1:p.Lys345Asn
NM_001375350.1:c.924A>C	NP_001362279.1:p.Lys308Asn
NM_198904.3:c.1344A>C	NP_944494.1:p.Lys448Asn
NM_198904.4:c.1344A>C MANE Select	NP_944494.1:p.Lys448Asn